A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16943099



Internal ID29385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187021002..187021501hg38UCSC Ensembl
chr3:186738790..186739289hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436116
Supporting Variants
Samples
Known GenesST6GAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16943099
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer